I suffer from Bronchiectasis, YNS & mild Lymphedema. We lost our baby boy at 6 days old is there anyone who can help?

[Lucawilliam]

My boy passed away 2016 of pleural effusion on the lungs, I have been told this may have been genetic but they can’t find the gene. I am desperate to be a Mam but I’m being told there is a 50/50 chance this may happen again. Can anyone help?

[newlands]

Oh my poor girl how terrible for you ,I don’t have any answer for you but for a baby to be inflicted with a lung disease is just cruel .Hope you get an answer

Take Care

Dorothy

[peege]

I deeply sorry to read this Lucawilliam. I have no ideas except suggest that you call the British Lung Foundation helpline. 03000 030555, uk office hours. They may have some suggestions some avenues or geneticists to try.

Thinking of you and wishing the very best future for you. Peege 🙏

[Caspiana]

Hi Lucawilliam .

I am so very sad to read your post. I'm afraid I can't help you with your question, but I'd like to wish you well. Warm wishes,

Cas xx 🌹

[skischool]

Dear Lucawilliam.

like others i am deeply saddened to hear of your loss,having done a little research it would appear that fetal pleural effusion can be monitored and treated during pregnancy so perhaps a discussion with your medical experts may help and reassure you in the future should they feel that perhaps given they have been unable to identify a specific gene it may be safe for you in the future to have another child.

wishing you the very best for the future.

Ski's and scruffy x

[Ergendl]

What a difficult decision for you. Hoping the medical experts will be able to help you with this.

[panda22]

I am so sorry for your loss. I lost my son at 13 days and the loss is so hard to bear. Good luck for the future.

[Lucawilliam in reply to panda22]

I’m so sorry for you to, would you mind me asking if this had anything to do with your lung condition or the circumstances surrounding his passing I’m so desperate for answers x

[panda22 in reply to Lucawilliam]

It was nothing to do with my copd. The loss of any child is heartbreaking and you are in my thoughts x

[Lucawilliam in reply to panda22]

You are also in mine panda22 x

[zorro1]

Hello Lucawilliam, are you in the UK? If so have you been referred to one of nhs England's genome centres? They may be able to investigate the genetic issue further and offer advice. They have a website with lots of info. They also run the 100,000 genomes project that investigates and identifies rare genetic diseases. Your GP should be able to refer you if appropriate. All the very best. Zorro

[Lucawilliam in reply to zorro1]

Thanks for your reply zorro1. Me and my sons bloods have both been tested and we are currently waiting for the results of the 100,000 genomes project but have been told it could be years to find anything because it’s so rare. We have just had no answers for 2 years and I didn’t want to give up, that’s why I reached out here. We are currently under the care of centre for life genetics

[zorro1 in reply to Lucawilliam]

I do hope that you have answers sooner rather than later. I belong to a couple of support groups that help people with the rare genetic condition Alpha 1 Antitrypsin deficiency that can lead to lung and liver problems at all ages. Their knowledge and support has been very helpful to me and to others with the condition or affected family members. Are the researchers at the genome project able to point you in the direction of rare disease support groups who may be dealing with issues similar to yours with or without a genetic diagnosis? I follow a couple of generic rare disease groups online too. If you are not already in touch I can look them up for you. Z xx

[Lucawilliam in reply to zorro1]

This is all new to me, so this is the only group I found lastnight. I am part of a yellow nail syndrome group on Facebook but I am one of the youngest ones in there so haven’t really got anywhere with that, I’d really appreciate your help if you didn’t mind

[zorro1 in reply to Lucawilliam]

Hi Lucawilliam,

Here are some organisations that may be able to offer advice and support or connect you with others that can. Some are uk based, others European. They have websites and also twitter accounts...

undiagnosed.org.uk - this is the Swan UK group that support families with undiagnosed rare genetic conditions/syndromes without a name and also try to set up support locally. And here's a link to their facebook page...

facebook.com/SWANchildrenUK/

There's info on their facebook page about local events coming up - eg on OCT

16

there's a Manchester undiagnosed genetic conditions information event

Other useful sites...

rarediseaseday.org

rareconnect.org

Eurodis.org

The organisations I am a member of are:

alpha1.uk - alpha1 awareness uk

and alpha1 uk support group

Both have Facebook groups. Not sure if they'd be of use to you as alpha 1 is a well known and researched condition but you could take a look at the website.

I hope something here can provide you with help and support.

All the best

Zxxx

[Lucawilliam in reply to zorro1]

Thank you so much zorro1, really appreciate this. Il take a look. If anything comes from this I will update you.

Best wishes

[zorro1 in reply to Lucawilliam]

You are most welcome. All the very best. I do hope you have some positive news soon.

Z xxx

[Neville33 in reply to Lucawilliam]

Hi there...have u tried the Mayo Clinic...they r world renown. I know the chief mentor of their Bronchiectasis/MAC support, has this gene, as did her mother..just a thiught

[Susan1200]

My heart goes out to you ,so very, very sad 😢 I hope you get all the help possible.i wish you the very best in life.

Take care .

Susan 🐘

[Izb1]

Very sorry to hear such sad news, I lost my granddaughter at one month old so can sympathise. The members have given a good bit of information for you to look at. I wish you all the very best. Irene x